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NM_002234.4(KCNA5):c.180G>A (p.Ala60=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 24, 2020
Accession:
VCV000309334.4
Variation ID:
309334
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.180G>A (p.Ala60=)

Allele ID
333126
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044327 (GRCh38) GRCh38 UCSC
12: 5153493 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5153493G>A
NC_000012.12:g.5044327G>A
NM_002234.4:c.180G>A MANE Select NP_002225.2:p.Ala60= synonymous
NG_012198.1:g.5409G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:5044326:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00019
1000 Genomes Project 0.00300
Exome Aggregation Consortium (ExAC) 0.01212
Trans-Omics for Precision Medicine (TOPMed) 0.00018
The Genome Aggregation Database (gnomAD), exomes 0.00342
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
Links
ClinGen: CA6399557
dbSNP: rs376660949
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 24, 2020 RCV000533761.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNA5 - - GRCh38
GRCh37
254 312

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000379694.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Oct 24, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000646984.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs376660949...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021